Special consultation familial intestinal cancer

Intestinal cancer is one of the most common cancer diseases in germany. Most of these cases appear isolated within a family, though you can detect an familiar accumulation in 25% of the affected persons.

About 5% of all  intestinal cancer cases originate on the basis of one currently known hereditary intestinal cancer syndrome. These syndromes appear on the basis of genetic changes which raise the likelyhood of getting intestinal cancer or other cancer diseases in the course of a lifetime.

The most frequent hereditary intestinal cancer syndromes are the hereditary colorectal cancer without Polyposis (HNPCC) as well as the familial adenomatous polyposis.

hereditary colorectal cancer without Polyposis (HNPCC)

In the case of NHPCC colorectal cancer occurs more frequently in one family. Furthermore other cancer diseases can appear, e.g. cancer of the endometrium, the small intestine or the efferent urinary tract.
The occurence of several such cancer diseases in one family can be a hint but does not have to be a proof for a hereditary intestinal cancer syndrome. Because of the frequency of intestinal cancer in the average population several family members can get intestinal cancer or associated cancer diseases without a shared genetic mutation.

The clinical diagnosis of HNPCC is made with the help of described criteria. In addition some criteria justify further investigations on tumour material in HNPCC associated patients.

If there is any hint for a HNPCC depending gene change in the tumour material, a predisposition for HNPCC can be tested with a blood sample of the affected person.

Familial adenomatous polyposis coli

Single large intestine polyps occur frequently in the average population, which are usually harmless if they are early recognized. Hundreds up to thousands of polyps are everywhere in the large intestine at the familial adenomatous polyposis coli. There is a high probability that these affected persons developed large intestine cancer. Sometimes an increased occurence of polyps can be a hint for a slighter form of familial adenomatous polyposis coli, whereby polyps can also appear in several other genetical syndromes.

Blood sample investigations of persons with a familial adenomatous polyposis coli proof whether a predisposition exists.

Procedure

If a hereditary form of intestinal cancer is suspected by family doctors or internists, a detailed human-genetic consultation follows. There a detailed family tree is created and the criteria for various forms of familiar intestinal cancer are discussed.

An absolute precondition for a well-founded genetic consultation are informations concerning cancer diseases within the family. Especially the pathological findings are very important for further steps. Advice-seeking persons should early endeavor to collect documents from physicians or relatives concerning the individual cancer diseases and bring them along to the consultation.

If there are no documents available, it is important to know in which hospital the cancer disease of the affected person was treated. Depending on family history and the individual situation the possibilities of a genetic testing will be discussed. Such a test is voluntary and carried out only after a time for consideration of at least four weeks after the human-genetic consultation.

Aim of the consultation

The aim of the consultation is to give an assessment of the individual disease risk and allow to occupy an early diagnosis adapted to their own situation. Furthermore the consultation should allow the advice-seeking persons to make their own decision for or against a molecular-genetic investigation in the family on the basis of the given information.

Information and Appointments